Evidence for an association between the Leu162Val polymorphism of the PPARα gene and decreased fasting serum triglyceride levels in glucose tolerant subjects

Eva Maria Damsgaard Nielsen*, Lars Hansen, Søren M. Echwald, Thomas Drivsholm, Knut Borch-Johnsen, Claus T. Ekstrøm, Torben Hansen, Oluf Pedersen

*Corresponding author af dette arbejde

    Publikation: Bidrag til tidsskriftArtikelForskningpeer review

    Abstract

    The aim of the study was to investigate whether genetic variation in the peroxisome proliferator-activated receptor-α (PPARα) is associated with type 2 diabetes and altered lipid or carbohydrate metabolism in glucose tolerant subjects. Mutation analyses of PPARα were performed in 56 type 2 diabetic patients. Six variants were identified: IVS3 + 76T>C, IVS3-19C>T, IVS4 + 35C>T, Leu162Val, Arg178Gly and Ala268Val. In a case-control study comprising 738 type 2 diabetic patients and 524 glucose tolerant subjects, the three exon variants did not show any significant differences in allele frequencies between type 2 diabetic patients and control subjects. The functional Leu162Val polymorphism was further investigated in genotype-phenotype studies involving 340 young, healthy subjects and 502 middle-aged glucose tolerant subjects. The young, healthy subjects who were heterozygous for the Leu162Val variant had, on average, a 20% decrease in fasting serum triglyceride levels (P = 0.014). This finding was replicated in middle-aged subjects (P = 0.023). The Leu162Val polymorphism was not related to alterations in insulin sensitivity, insulin release or level of glycaemia. In conclusion, the Leu162Val polymorphism of PPARα is associated with a decreased level of fasting serum triglyceride in glucose tolerant white subjects.

    OriginalsprogEngelsk
    Sider (fra-til)417-423
    Antal sider7
    TidsskriftPharmacogenetics
    Vol/bind13
    Udgave nummer7
    DOI
    StatusUdgivet - 1 jul. 2003

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